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    RPP14 ribonuclease P/MRP subunit p14 [ Homo sapiens (human) ]

    Gene ID: 11102, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RPP14provided by HGNC
    Official Full Name
    ribonuclease P/MRP subunit p14provided by HGNC
    Primary source
    HGNC:HGNC:30327
    See related
    Ensembl:ENSG00000163684 MIM:606112; AllianceGenome:HGNC:30327
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P14
    Summary
    This gene encodes a subunit of ribonuclease P and has 3' to 5' exoribonuclease activity. Transcripts for this gene are bicistronic and include a conserved downstream open reading frame for the hydroxyacyl-thioester dehydratase type 2 (HTD2) gene. [provided by RefSeq, May 2017]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.8), kidney (RPKM 4.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RPP14 in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (58306245..58320193)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (58346652..58360600)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (58291972..58305920)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20005 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:58202830-58203333 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:58203334-58203836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58222930-58223869 Neighboring gene abhydrolase domain containing 6, acylglycerol lipase Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:58276464-58277147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20009 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58298051-58298552 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:58307710-58308471 Neighboring gene hydroxyacyl-thioester dehydratase type 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14488 Neighboring gene Sharpr-MPRA regulatory region 6112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20010 Neighboring gene uncharacterized LOC105377106 Neighboring gene PX domain containing serine/threonine kinase like Neighboring gene MPRA-validated peak4672 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr3:58363583-58363810 Neighboring gene WDR53 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A protein subunit of human RNase P, Rpp14, and its interacting partner, OIP2, have 3'-->5' exoribonuclease activity. Jiang T, et al. Proc Natl Acad Sci U S A, 2002 Apr 16. PMID 11929972, Free PMC Article
    2. Death of a dogma: eukaryotic mRNAs can code for more than one protein. Mouilleron H, et al. Nucleic Acids Res, 2016 Jan 8. PMID 26578573, Free PMC Article
    3. An ancient genetic link between vertebrate mitochondrial fatty acid synthesis and RNA processing. Autio KJ, et al. FASEB J, 2008 Feb. PMID 17898086
    4. Protein-protein interactions with subunits of human nuclear RNase P. Jiang T, et al. Proc Natl Acad Sci U S A, 2001 Jan 30. PMID 11158571, Free PMC Article
    5. Localization in the nucleolus and coiled bodies of protein subunits of the ribonucleoprotein ribonuclease P. Jarrous N, et al. J Cell Biol, 1999 Aug 9. PMID 10444065, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A protein subunit of human RNase P, Rpp14, and its interacting partner, OIP2, have 3'-->5' exoribonuclease activity.
      Title: A protein subunit of human RNase P, Rpp14, and its interacting partner, OIP2, have 3'-->5' exoribonuclease activity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31508

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribonuclease P RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ribonuclease P RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to ribonuclease P activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in tRNA 5'-leader removal IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tRNA 5'-leader removal IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of multimeric ribonuclease P complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of multimeric ribonuclease P complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ribonuclease P protein subunit p14
    Names
    ribonuclease P/MRP 14kDa subunit
    NP_001092253.1
    NP_008973.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001098783.3 → NP_001092253.1  ribonuclease P protein subunit p14

      See identical proteins and their annotated locations for NP_001092253.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC098479, CN354601, DC360931
      Consensus CDS
      CCDS2888.1
      UniProtKB/Swiss-Prot
      O95059, Q53X97
      Related
      ENSP00000412894.2, ENST00000445193.7
      Conserved Domains (1) summary
      pfam01900
      Location:35 → 108
      RNase_P_Rpp14; Rpp14/Pop5 family

    2. NM_007042.6 → NP_008973.1  ribonuclease P protein subunit p14

      See identical proteins and their annotated locations for NP_008973.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC098479, BC002441, DC360931
      Consensus CDS
      CCDS2888.1
      UniProtKB/Swiss-Prot
      O95059, Q53X97
      Related
      ENSP00000295959.5, ENST00000295959.10
      Conserved Domains (1) summary
      pfam01900
      Location:35 → 108
      RNase_P_Rpp14; Rpp14/Pop5 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      58306245..58320193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      58346652..58360600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_049755.1: Suppressed sequence

      Description
      NR_049755.1: This RefSeq was removed because it is now thought that this transcript does encode a protein.

    2. NR_049756.1: Suppressed sequence

      Description
      NR_049756.1: This RefSeq was removed because it is now thought that this transcript does encode a protein.

    3. NR_049757.1: Suppressed sequence

      Description
      NR_049757.1: This RefSeq was removed because it is now thought that this transcript does encode a protein.

    4. NR_049758.1: Suppressed sequence

      Description
      NR_049758.1: This RefSeq was removed because it is now thought that this transcript does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95059.3 GenPept UniProtKB/Swiss-Prot:O95059

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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